Table 4

Couple 2. 46,XX,t(6;21)(q13;q22.3): FISH analysis of embryos from two PGD cycles

EmbryoBiopsied cellsRemainder of embryoProbable segregation (maternal contribution for translocation chromosomes)4-150
Cycle 1
12 Normal for chr 21Transferred3:1 interchange aneuploidy 4-151 (21)
22 Trisomy 21q22.3→qterTrisomy 21q22.3→qter (mosaic)Adjacent 1 (der 6; 21)4-152
31 Monosomy 21q22.3→qterMonosomy 21q22.3→qter (mosaic)3:1 tertiary aneuploidy (der 21)
41 Trisomy 21q22.3→qterTrisomy 21q22.3→qterAdjacent 1 (der 6; 21)
5Not biopsiedMonosomy 21pter→q22.3Adjacent 2 (6; der 6)
6Not biopsiedNormal/trisomy 21q22.3→qter3:1 tertiary aneuploidy (6; der 6; 21)
7Not biopsiedTrisomy 213:1 interchange aneuploidy (der 6; 21; der 21)
Cycle 2
8Not biopsiedTrisomy 21q22.3→qter/monosomy 21pter→q22.33:1 tertiary aneuploidy (6; der 6; 21)
9Not biopsiedTrisomy 21q22.3→qter/monosomy 21q22.3→qter3:1 interchange aneuploidy (der 6; 21; der 21)

  • ↵4-150 Most likely segregation to produce embryo outcome deduced from PGD results and reprobing data using chromosome 6 α satellite probe.

  • ↵4-151 Based on reprobing data from one biopsied cell.

  • ↵4-152 der = derivative chromosome.